单纯性大疱性表皮松解症中的小纤维神经病变 - Suppr

Small fiber neuropathy in epidermolysis bullosa simplex.

作者信息

Babakoohi Shahab, Sipe Amber, Zamanifekri Mani, Hunter William D

机构信息

Atrium Health Levine Cancer Institute, Wake Forest School of Medicine, Charlotte, North Carolina.

Caromont Neurology, Gastonia, North Carolina.

出版信息

JAAD Case Rep. 2024 Apr 3;48:23-25. doi: 10.1016/j.jdcr.2024.03.013. eCollection 2024 Jun.

DOI:10.1016/j.jdcr.2024.03.013

PMID:38741659

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11090054/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed0e/11090054/dd54e73e1e89/gr1.jpg

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Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.

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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

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Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.

J Clin Invest. 2009 Jul;119(7):1784-93. doi: 10.1172/JCI38177. Epub 2009 Jul 1.

The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology.

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Small fiber neuropathy in epidermolysis bullosa simplex.

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